期刊
NEUROSCIENCE LETTERS
卷 514, 期 2, 页码 156-158出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2012.02.078
关键词
PLA2G6; Gene mutation; Sporadic early-onset parkinsonism
资金
- Major State Basic Research Development Program of China (973 Program) [2011CB510000]
- National 863 High-Tech Research and Development Program of China [2006AA02A408]
- National Natural Science Foundation of China [30570638, 30770735, 30971035, 30900469]
Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (FOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population. In this study, we found a novel heterozygous varient (p.G679V). Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
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